Variant report

Variant	rs11100994
Chromosome Location	chr10:50348936-50348937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10508911	0.90[EUR][1000 genomes]
rs10857434	0.88[EUR][1000 genomes]
rs11100985	0.89[EUR][1000 genomes]
rs11814668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11815070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011692	0.84[EUR][1000 genomes]
rs17011715	0.85[EUR][1000 genomes]
rs17011726	0.85[EUR][1000 genomes]
rs17011755	0.91[EUR][1000 genomes]
rs17011799	0.91[EUR][1000 genomes]
rs17773666	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17774010	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17774028	0.86[AMR][1000 genomes]
rs17774058	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28505677	0.81[EUR][1000 genomes]
rs36116147	0.85[EUR][1000 genomes]
rs4264085	0.83[EUR][1000 genomes]
rs4272720	0.83[EUR][1000 genomes]
rs4453139	0.85[EUR][1000 genomes]
rs45563932	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55648711	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55872223	0.91[EUR][1000 genomes]
rs55936311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56027486	0.85[EUR][1000 genomes]
rs56081724	0.88[AMR][1000 genomes]
rs56157539	0.85[EUR][1000 genomes]
rs56197478	0.91[EUR][1000 genomes]
rs59889308	0.87[EUR][1000 genomes]
rs61166027	0.85[EUR][1000 genomes]
rs61848370	0.85[EUR][1000 genomes]
rs61848371	0.85[EUR][1000 genomes]
rs61848377	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61848380	0.88[EUR][1000 genomes]
rs61850681	0.80[EUR][1000 genomes]
rs61850682	0.83[EUR][1000 genomes]
rs61850684	0.84[EUR][1000 genomes]
rs61850689	0.85[EUR][1000 genomes]
rs61850690	0.85[EUR][1000 genomes]
rs61850693	0.85[EUR][1000 genomes]
rs7073558	0.86[AMR][1000 genomes]
rs7073561	0.86[AMR][1000 genomes]
rs7084861	0.80[EUR][1000 genomes]
rs72785044	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785050	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72785051	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72785060	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785072	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72785076	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72786903	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72789086	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789089	0.88[AMR][1000 genomes]
rs72789095	0.86[AMR][1000 genomes]
rs72789097	0.86[AMR][1000 genomes]
rs7900761	0.86[AMR][1000 genomes]
rs7905715	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7919424	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
2	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
4	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
5	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
6	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
7	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
8	chr10:50346200-50349800	Enhancers	NHLF	lung
9	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:50346400-50349600	Enhancers	Ovary	ovary
11	chr10:50346600-50349600	Enhancers	HSMMtube	muscle
12	chr10:50346600-50350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:50346800-50349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:50346800-50349000	Enhancers	Left Ventricle	heart
15	chr10:50346800-50349000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:50346800-50349200	Enhancers	Placenta	Placenta
17	chr10:50346800-50351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr10:50347000-50349000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:50347000-50349000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:50347000-50349800	Enhancers	K562	blood
21	chr10:50347600-50349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50347600-50349000	Enhancers	Right Ventricle	heart
23	chr10:50347800-50349000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:50347800-50349400	Enhancers	Osteobl	bone
25	chr10:50347800-50349800	Enhancers	NH-A	brain
26	chr10:50347800-50351200	Enhancers	NHDF-Ad	bronchial
27	chr10:50348000-50349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:50348000-50349800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:50348000-50351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:50348000-50352200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:50348400-50349000	Enhancers	Spleen	Spleen
32	chr10:50348600-50349000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:50348600-50349000	Enhancers	Stomach Smooth Muscle	stomach
34	chr10:50348600-50349400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:50348800-50349600	Enhancers	HSMM	muscle
36	chr10:50348800-50352200	Weak transcription	Right Atrium	heart

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